日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

An integrated, scaled approach to resolve TSC2 variants of uncertain significance

采用综合、规模化的方法来解决意义不明的TSC2变异。

Biar, Carina G; Wang, Ziyu R; Camp, Nathan D; Holmes, Daniel L; Wheelock, Melinda K; Pendyala, Sriram; McGee, Abby V; Gupta, Pankhuri; McEwen, Abbye E; Tejura, Malvika; Richardson, Marcy E; Weyandt, Jamie D; Coleman, Taylor; Stewart, Ross; Zeiberg, Daniel; Vandi, Allyssa J; Dawson, Samantha; Radivojac, Predrag; Starita, Lea M; Carvill, Gemma L; James, Richard G; Fowler, Douglas M; Calhoun, Jeffrey D

A scalable approach to resolving variants of uncertain significance

一种解决意义不确定变异的可扩展方法

Tejura, Malvika; Chen, Yile; McEwen, Abbye E; Stewart, Ross; Sverchkov, Yuriy; Laval, Florent; Woo, Ivan; Zeiberg, Daniel; Shen, Runxi; Fayer, Shawn; Stone, Jeremy; Smith, Nahum; Casadei, Silvia; Wang, Ziyu R; Snyder, Matthew W; Capodanno, Benjamin J; Gupta, Pankhuri; Benazouz, Mariam; Jain, Shantanu; Heidl, Sarah; Muffley, Lara; Dong, Shengcheng; Hitz, Benjamin C; Gabdank, Idan; Lin, Khine; Da, Estelle Y; Best, Sabrina; Grindstaff, Sally; Reinhart, David; Rodriguez-Salas, Leslie; Seid, Obsa; Vandi, Allyssa J; Wenman, Cameron; Wheelock, Melinda K; Pendyala, Sriram; Holmes, Dan; Xu, Alicia; Hosokai, Airi; Tixhon, Maxime; Reno, Chloe; Ewald, Jessica D; Spirohn-Fitzgerald, Kerstin; Teelucksingh, Tanisha; Hao, Tong; Chen, Zitong S; Haghighi, Marzieh; Hamid, Ahmad Kamal; Miglietta, Esteban A; Weisbart, Erin; Coppin, Georges; Lambourne, Luke; Gebbia, Marinella; Coté, Atina G; van Loggerenberg, Warren; Fawcett, Kirby M; Steiner, Robert D; Johnsen, Jill M; Stergachis, Andrew B; Iakoucheva, Lilia M; Singh, Shantanu; Cimini, Beth A; Roth, Frederick P; James, Richard G; Vidal, Marc; Taipale, Mikko; Carpenter, Anne E; Calderwood, Michael A; Craven, Mark; Pejaver, Vikas; Rubin, Alan F; Radivojac, Predrag; Fowler, Douglas M; Starita, Lea M

MaveDB 2024: a curated community database with over seven million variant effects from multiplexed functional assays

MaveDB 2024:一个经过精心整理的社区数据库,包含来自多重功能分析的超过七百万个变异效应

Rubin, Alan F; Stone, Jeremy; Bianchi, Aisha Haley; Capodanno, Benjamin J; Da, Estelle Y; Dias, Mafalda; Esposito, Daniel; Frazer, Jonathan; Fu, Yunfan; Grindstaff, Sally B; Harrington, Matthew R; Li, Iris; McEwen, Abbye E; Min, Joseph K; Moore, Nick; Moscatelli, Olivia G; Ong, Jesslyn; Polunina, Polina V; Rollins, Joshua E; Rollins, Nathan J; Snyder, Ashley E; Tam, Amy; Wakefield, Matthew J; Ye, Shenyi Sunny; Starita, Lea M; Bryant, Vanessa L; Marks, Debora S; Fowler, Douglas M

Insights on improving accessibility and usability of functional data to unlock their potential for variant interpretation

深入探讨如何提高功能数据的可访问性和可用性,从而释放其在变异解读方面的潜力

Park, Min Seon; Kumar, Runjun D; Ovadiuc, Cristian; Folta, Andrew; McEwen, Abbye E; Snyder, Ashley; Villani, Rehan M; Spurdle, Amanda B; Fowler, Douglas M; Rubin, Alan F; Shirts, Brian H; Starita, Lea M; Stergachis, Andrew B

Consultation informs strategies for improving the use of functional evidence in variant classification

咨询为改进变异分类中功能证据的使用策略提供了信息。

Villani, Rehan M; Terrill, Bronwyn; Tudini, Emma; McKenzie, Maddison E; Cliffe, Corrina C; Hahn, Christopher N; Lundie, Ben; Mattiske, Tessa; Matotek, Ebony; McEwen, Abbye E; Nickerson, Sarah L; Breen, James; Fowler, Douglas M; Christodoulou, John; Starita, Lea; Rubin, Alan F; Spurdle, Amanda B

Combining multiplexed functional data to improve variant classification

结合多重功能数据以改进变异分类

Calhoun, Jeffrey D; Dawood, Moez; Rowlands, Charlie F; Fayer, Shawn; Radford, Elizabeth J; McEwen, Abbye E; Turnbull, Clare; Spurdle, Amanda B; Starita, Lea M; Jagannathan, Sujatha

Gene-based calibration of high-throughput functional assays for clinical variant classification

基于基因的高通量功能检测校准用于临床变异分类

Zeiberg, Daniel; Tejura, Malvika; McEwen, Abbye E; Fayer, Shawn; Pejaver, Vikas; Rubin, Alan F; Starita, Lea M; Fowler, Douglas M; O'Donnell-Luria, Anne; Radivojac, Predrag

Insights on improving accessibility and usability of functional data to unlock its potential for variant interpretation

深入探讨如何提高功能数据的可访问性和可用性,从而释放其在变异解读方面的潜力

Park, Min Seon; Kumar, Runjun D; Ovadiuc, Cristian; Folta, Andrew; McEwen, Abbye E; Snyder, Ashley; Fowler, Douglas M; Rubin, Alan F; Shirts, Brian H; Starita, Lea M; Stergachis, Andrew B

MaveMD: A functional data resource for genomic medicine

MaveMD:基因组医学的功能性数据资源

McEwen, Abbye E; Stone, Jeremy; Tejura, Malvika; Gupta, Pankhuri; Capodanno, Benjamin J; Da, Estelle Y; Grindstaff, Sally B; Moore, Nick; Reinhart, David; Snyder, Ashley E; Stergachis, Andrew B; Starita, Lea M; Fowler, Douglas M; Rubin, Alan F

Saturation genome editing of BARD1 resolves VUS and provides insight into BRCA1-BARD1 tumor suppression

BARD1基因的饱和基因组编辑解析了VUS,并为BRCA1-BARD1肿瘤抑制机制提供了新的见解。

Woo, Ivan; Casadei, Silvia; Snyder, Matthew W; Smith, Nahum T; Best, Sabrina; Tejura, Malvika; Gupta, Pankhuri; McEwen, Abbye E; Post, Mason; Hamm, Audrey; Dawood, Moez; Hosokai, Airi; Xu, Alicia; Garge, Riddhiman K; Fayer, Shawn; Brannan, Terra; Richardson, Marcy E; Pendyala, Sriram; Heidl, Sarah; Muffley, Lara; Fowler, Douglas M; Starita, Lea M